G16del (p.Gly16del) variant of SMO (Protein smoothened)
G16del (p.Gly16del) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G16del (p.Gly16del) variant details
- gnomAD 7-129189195-TGGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available